Integrated Knowledge Management Framework for Clinical Genomics

项目总结/摘要 基因组医学的快速发展反映了我们对基因组学如何影响 健康患者基因组信息用于诊断和治疗的临床应用进展 决策正在推动测试的增加，并随后将基因组数据报告给电子 健康记录（EHR）和其他临床系统。生殖系基因组数据被认为是稳定的， 患者的生命，但这些数据的解释及其临床效用将继续发展，作为新的发现 并转化为临床实践。此外，基因组数据的现代解释通常包括 多步骤的过程，其中一种解释用于通知另一种解释。的时间动态性质 基因组信息和知识（GIK）以及解释之间的相互依赖性使一个正式的 为这些数据建立知识模型。现有的方法来表示和管理GIK是不够的 为了充分支持基因组医学的需要，因此必须开发一种新的方法。 这项研究计划的具体目标是开发和评估基因组解释， 知识（GenIK）框架，用于捕获与临床基因组结果相关的解释， 标准化、结构化的数据。GenIK框架将：1）促进基因组数据的更强大整合 2）实现可扩展的知识管理; 3）使其他系统能够利用GIK; 4） 实现临床、转化和发现研究;以及5）实现GIK的有意义的数据共享。此外，委员会认为， 由于该框架将基于一个通用的、基于标准的知识模型， 扩展到支持新类型的基因组解释和使用这些数据。GenIK框架将填补 GIK的代表性，管理和交付方面的关键差距，从而推进基因组医学。 拟议的研究计划将开发基础资源，使更多的无缝集成 基因组学在研究和临床环境中的应用。研究领域1将侧重于发现活动， 支持GenIK框架的开发。研究领域2将侧重于翻译和 GenIK框架在临床系统中的应用。研究领域3将侧重于传播， 与利益相关者社区的互动。本研究的主要假设是， 基于GenIK框架的GIK将比现有方法更全面地捕获GIK，从而提高 GIK的管理、使用和共享。 基因组创新奖将使团队科学项目和基因组研究合作， 财团，研究临床范围内可扩展GIK管理的要求和实施 系统.拟议研究计划开发的资源将允许捕获和交换 GIK以发现的速度进行，支持精准医学研究作为学习的一部分 医疗保健系统和加速科学和医学突破，改善人类健康。

PROJECT SUMMARY/ABSTRACT The rapid growth of genomic medicine reflects increases in our understanding of how genomics impacts health. Advances in the clinical utility of patient genomic information to inform diagnostic and therapeutic decision-making are driving increases in testing and the subsequent reporting of genomic data to electronic health records (EHRs) and other clinical systems. Germline genomic data are presumed to be stable over a patient’s life, but the interpretation of those data and its clinical utility will continue to evolve as new discoveries are made and translated to clinical practice. Furthermore, modern interpretations of genomic data often include multi-step processes in which one interpretation is used to inform another. The temporally dynamic nature of genomic information and knowledge (GIK) and the inter-dependencies among interpretations make a formal knowledge model for those data essential. Existing approaches to represent and manage GIK are not sufficient to fully support the needs of genomic medicine and thus a new approach must be developed. The specific objective of this research program is to develop and evaluate the Genomic Interpretation and Knowledge (GenIK) Framework for capturing interpretations related to clinical genomic results as standardized, structured data. The GenIK framework will: 1) facilitate more robust integration of genomic data into EHRs; 2) enable scalable knowledge management; 3) enable utilization of GIK by other systems; 4) enable clinical, translational, and discovery research; and 5) enable meaningful data sharing of GIK. Moreover, because the framework will be based on a generalized, standards-based knowledge model, it will elegantly extend to support new types of genomic interpretations and uses for those data. The GenIK framework will fill a critical gap in the representation, management, and delivery of GIK, thereby advancing genomic medicine. The proposed research program will develop foundational resources that will enable more seamless integration of genomics within both research and clinical settings. Research Area 1 will focus on discovery activities that support the development of the GenIK framework. Research Area 2 will focus on the translation and application of the GenIK framework within clinical systems. Research Area 3 will focus on dissemination to and engagement with stakeholder communities. The main hypothesis of this research is that implementations based on the GenIK framework will more fully capture GIK than existing approaches, thereby improving the management, use, and sharing of GIK. The Genomic Innovator Award will enable, in team-science projects and in collaboration with genomic research consortia, the study of the requirements for and implementation of scalable GIK management within clinical systems. The resources developed by the proposed research program will allow the capture and exchange of GIK to take place at the speed of discovery, supporting research in precision medicine as part of a learning healthcare system and accelerating scientific and medical breakthroughs that improve human health.